ArticleOrphanet journal of rare diseases2020
Mowat-Wilson syndrome: growth charts.
Article in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 18 citations in OpenAlex.
- Commentary on the LMSz method: a novel approach to gene-specific growth charts for rare neurodevelopmental disorders.European journal of human genetics : EJHG · 2026Article
- The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders.European journal of human genetics : EJHG · 2026Article
- Gastrointestinal dysfunction in patients with Mowat-Wilson syndrome is associated with feeding difficulties and altered plasma neurotransmitters.Frontiers in pediatrics · 2026Article
- Impaired nutrient absorption, reduced bone mass and alterations in the gut microbiome contribute to postnatal growth retardation in a mouse model of MWS.Scientific reports · 2025Article
- The growth diversity of preterm infants at 0-36 months corrected age in China: a real-world observational study.Frontiers in pediatrics · 2025Article
- Identification of the DNA methylation signature of Mowat-Wilson syndrome.European journal of human genetics : EJHG · 2024Article
- DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data.Annual review of genomics and human genetics · 2023Review
- Mowat-Wilson syndrome presenting with Shone's complex cardiac anomaly.BMJ case reports · 2022Article
- Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies.Pharmacogenomics and personalized medicine · 2022Article
- Physical, language, neurodevelopment and phenotype-genotype correlation of Chinese patients with Mowat-Wilson syndrome.Frontiers in genetics · 2022Article
- Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome.Journal of applied genetics · 2021Article
- Neurological Phenotype of Mowat-Wilson Syndrome.Genes · 2021Review
- Clinical and Molecular Spectrum of Four Patients Diagnosed with Mowat-Wilson Syndrome.Molecular syndromology · 2020Article
- Latent class distributional regression for the estimation of non-linear reference limits from contaminated data sources.BMC bioinformatics · 2020Article
Corrections and comments
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Authors and funding
53 authors at 20 institutions in 19 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and multiple organ malformations of which congenital heart defects and urogenital anomalies are the most frequent ones. To date, a clear description of the physical development of MWS patients does not exist. The aim of this study is to provide up-to-date growth charts specific for infants and children with MWS. Charts for males and females aged from 0 to 16 years were generated using a total of 2865 measurements from 99 MWS patients of different ancestries. All data were collected through extensive collaborations with the Italian MWS association (AIMW) and the MWS Foundation. The GAMLSS package for the R statistical computing software was used to model the growth charts. Height, weight, body mass index (BMI) and head circumference were compared to those from standard international growth charts for healthy children.
resultsIn newborns, weight and length were distributed as in the general population, while head circumference was slightly smaller, with an average below the 30th centile. Up to the age of 7 years, weight and height distribution was shifted to slightly lower values than in the general population; after that, the difference increased further, with 50% of the affected children below the 5th centile of the general population. BMI distribution was similar to that of non-affected children until the age of 7 years, at which point values in MWS children increased with a less steep slope, particularly in males. Microcephaly was sometimes present at birth, but in most cases it developed gradually during infancy; many children had a small head circumference, between the 3rd and the 10th centile, rather than being truly microcephalic (at least 2 SD below the mean). Most patients were of slender build.
conclusionsThese charts contribute to the understanding of the natural history of MWS and should assist pediatricians and other caregivers in providing optimal care to MWS individuals who show problems related to physical growth. This is the first study on growth in patients with MWS.
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